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    06 January 2019, Volume 34 Issue 1 Previous Issue    Next Issue

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    Expert consensus on immunization in children with special health state(Ⅳ) ——Food allergy and immunization
    2019, 34(1): 1-2.  DOI: 10.19538/j.ek2019010601
    Abstract ( )  
    Expert consensus on immunization in children with special health state(Ⅴ)——Congenital heart disease and immunization
    2019, 34(1): 2-4.  DOI: 10.19538/j.ek2019010602
    Abstract ( )  
    Expert consensus on immunization in children with special health state(Ⅵ) ——Eczema and immunization
    2019, 34(1): 4-5.  DOI: 10.19538/j.ek2019010603
    Abstract ( )  
    Paying attention to screening,diagnosis and treatment of fatty acid oxidation disorders
    HAN Lian-shu
    2019, 34(1): 6-10.  DOI: 10.19538/j.ek2019010604
    Abstract ( )  

    Fatty acid oxidation disorders(FAOD)include more than 10 kinds of diseases,they all belong to autosomal recessive diseases and are common inherited metabolic diseases. Onset age of the patients with FAOD  are from newborn to adult. The clinical manifestations were nonspecific,mainly manifested as liver disease,cardiomyopathy and muscle diseases. Detection of free carnitine and acylcarnitines in blood by tandem mass spectrometry and detection of gene mutations are important methods for diagnosis of such diseases. Tandem mass screening for neonatal screening is helpful for early diagnosis and early treatment of FAOD. Primary carnitine deficiency and multiple acyl-CoA dehydrogenase deficiency can be treated by specific therapeutic drugs with good effect. There are no specific drugs for other diseases,which need symptomatic treatment.

    Newborn screening for fatty acid oxidation disorders
    HUANG Xin-wen, ZHANG Yu
    2019, 34(1): 11-14.  DOI: 10.19538/j.ek2019010605
    Abstract ( )  

    Fatty acid oxidation disorders(FAOD) are a group of recessive hereditary diseases caused by the dysfunction of enzymes required for fatty acids to enter mitochondria or fatty acid beta-oxidation,including carnitine transport disorders and fatty acid beta-oxidation disorders. Clinical symptoms are non-specific,involving multiple organs,such as liver,myocardium,skeletal muscle,brain and kidney. Most FAOD patients diagnosed by newborn screening have no clinical symptoms or mild symptoms through early intervention management,but they are prone to acute onset or even sudden death under stress conditions such as hunger and exercise. Long-term follow-up and management can effectively reduce the mortality and morbidity rate of FAOD.

    Screening,diagnosis and treatment of primary carnitine deficiency
    YANG Ru-lai,TONG Fan,ZHENG Jing
    2019, 34(1): 14-18.  DOI: 10.19538/j.ek2019010606
    Abstract ( )  

    Primary carnitine deficiency is an autosomal recessive hereditary disease caused by the mutation of SLC22A5 gene,which leads to increased carnitine excretion in urine and low level of carnitine in blood,tissues and cells. Due to the heterogeneity and non-specificity of the clinical manifestations of PCD,it is easy to be misdiagnosed or missed and it is potentially fatal without timely treatment. This disease can be detected early through the newborn screening. Maternal carnitine deficiency and the secondary carnitine deficiency caused by  other diseases should be excluded. Genetic test can give a clear diagnosis. Avoiding hunger and use of oral L-carnitine supplementation to maintain normal plasma carnitine concentrations are effective treatments.

    Progress in the diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency
    LU Mei*, YANG Yan-ling
    2019, 34(1): 19-22.  DOI: 10.19538/j.ek2019010607
    Abstract ( )  

    Multiple acyl-CoA dehydrogenase deficiency,also known as glutaric aciduria typeⅡ,is an autosomal recessive inherited metabolic disease. It is a mitochondrial electron transport chain and fatty acid metabolism disorder caused by a defect of electron transfer flavoprotein(ETF) or ETF dehydrogenase(ETFDH),resulting in the damage to multiple organs such as myocardia,liver,brain and skeletal muscle. The clinical diagnosis of multiple acyl-CoA dehydrogenase deficiency is difficult due to the lack of specific symptoms and signs of the patients. To make a definitive diagnosis,blood aminoacids and acylcarnitine profiles,urinary organic acids profiles and gene analysis are necessary. According to the response to riboflavin(or vitamin B2),multiple acyl-CoA dehydrogenase deficiency could be divided into riboflavin-responsive form and riboflavin-unresponsive form. The riboflavin-responsive form is usually observed in the late-onset cases with good outcome. The patients of riboflavin-unresponsive form usually have early-onset with severe diseases. Bezafibrate, L-carnitine,coenzyme Q10,sodium-D,L-3-hydroxybutyrate and low-fat die should be considered for the treatment. Some patients with riboflavin-unresponsive form show poor outcome.

    Progress in diagnosis and treatment of medium chain acyl coenzyme A dehydrogenase deficiency
    ZOU Hui,LI Yu-lin,TIAN Li-ping
    2019, 34(1): 22-25.  DOI: 10.19538/j.ek2019010608
    Abstract ( )  

    Medium chain acyl CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidative deficiency disease. It has various clinical manifestations,such as hypoglycemia,lethargy,myasthenia,etc. Different clinical manifestations and atypical biochemical examination can increase the difficulty of diagnosis,which is more likely to result in misdiagnosis. If it is not treated in time,mortality and the rate of sequelae are high,but if confirmed by neonatal screening and treated in time,satisfactory results can be obtained.

    Very-long chain acyl coenzyme A dehydrogenase deficiency
    LYU Yong-fen*,HAN Lian-shu
    2019, 34(1): 25-29.  DOI: 10.19538/j.ek2019010609
    Abstract ( )  

    Very long chain acyl-CoA dehydrogenase deficiency(VLCADD) is a disorder involving the initial step of fatty acid beta-oxidation in the mitochondrial matrix. VLCADD  can present at various ages,from the neonatal period to adulthood,with symptoms including hypoglycemia,rhabdomyolysis,skeletal muscle weakness and cardiomyopathy,and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis,treatment,and surveillance can reduce mortality. The most common diagnostic evaluation methods are plasma acylcarnitine profiles and ACADVL gene molecular testing. Functional testing,including white blood cell or fibroblast enzyme assay,is a useful diagnostic adjunct if molecular sequencing alone is insufficient to determine  the diagnosis or uncharacterized mutations are identified. Treatment emphasizes the avoidance of fasting and often includes a specialized diet that is high carbohydrate/low long-chain fat which is supplemented by medium chain triglycerides(MCT).

    Fatty acid oxidation disorders and cardiomyopathy
    FU Li-jun, CHEN Hao
    2019, 34(1): 29-32.  DOI: 10.19538/j.ek2019010610
    Abstract ( )  

    Fatty acid is the most important energy source of myocardium. Fatty acid oxidation disorders(FAODs) can give rise to insufficiency of mitochondrial energy production and accumulation of metabolic intermediates in cardiomyocytes,such as lipid and long-chain acyl carnitine,leading to myocardial lesions. FAODs include carnitine-dependent fatty acid transport disorders and mitochondrial fatty acid beta-oxidation disorders,with any enzyme or transporter defect in fatty acid oxidation process resulting in this disease. Although FAODs are one of the rare causes of pediatric cardiomyopathy,some patients with FAODs are expected to have cardiomyopathy alleviated and quality of life improved by early correction of fatty acid metabolic disorders.

    Clinical and genetic variation analysis of 97 patients with Duchenne muscular dystrophy
    HE Ying-zhong,HAN Feng,WANG Ji-wen,et al
    2019, 34(1): 33-36.  DOI: 10.19538/j.ek2019010611
    Abstract ( )  

    Objective To analyze the clinical and gene mutation characteristics of Duchenne progressive muscular dystrophy (DMD),summarize the gene mutation hotspots in 97 cases and to explore the correlation between clinical manifestations and genotype. Methods Totally 97 patients with DMD diagnosed by genetic examination from January 2014 to 2018 were collected and analyzed. The clinical manifestations,serum analyses and gene mutation results were analyzed. Results The main clinical manifestations of 97 patients(96 boys) were feeding difficulties, increased muscle enzyme and limb weakness. Creatine kinase(CK), lactate dehydrogenase(LDH) and aspartate aminotransferase(AST) muscle enzymes were significantly increased. By combining deep-sequencing technologies,the large deletions of DMD gene mutation was in 62 cases(63.92%);there were 11 cases(11.34%) of large duplication mutation,and 24 cases(24.74%) of point mutation. All of the mutations could occur in any position in the DMD gene,but there were two hot spots;45 cases were located in the central region gene exon 45~55(72.58% );12 cases of deletion mutation were located in 5’exon end exon 2~19 area(19.35%). Conclusion The main clinical manifestations of the DMD children are feeding difficulty,increased muscle enzyme and limb weakness. The patients with significantly increased muscle enzyme should receive a timely defection of DMD gene.

    Efficacy and safety of tocilizumab on refractory systemic onset juvenile idiopathic arthritis:observation on 16 cases
    GENG Ling-ling*,MIAO Feng,ZHOU Yang,et al
    2019, 34(1): 37-40.  DOI: 10.19538/j.ek2019010612
    Abstract ( )  

    Objective To observe the efficacy and safety of tocilizumab against refractory systemic onset juvenile idiopathic arthritis(SoJIA). Methods A prospective follow-up study of 16 patients with refractory active SoJIA patients with or with tocilizumab after treatment of clinical disease activity indicators and safety. The ANOVA was used for statistical analysis. Results After 2 weeks,12 weeks and 52 weeks of treatment,the levels of white blood cells,erythrocyte sedimentation rate and hypersensitive C-reactive protein were significantly decreased,and there were statistically significant differences(F=26.25、145.70、517.96,P<0.05). JADAS27 was significantly decreased after 2 weeks,12 weeks and 52 weeks of treatment with tocilizumab(the score being 23.09±3.46,8.19±2.63,4.25±2.86 and 2.63±1.54),the difference being statistically significant(P<0.05). Some children had adverse reactions,2 cases of skin abnormalities,1 case of white pityriasis,1 case of skin infection;3 cases of liver enzyme abnormalities;2 cases of leukopenia. Conclusion Tocilizumab can improve the condition of children with SoJIA in rapid and obvious way,and medium and long-term security and tolerance was good. The duration of tocilizumab therapy should be carefully assessed.

    Analysis of diagnosis of 5 children with suspected neuronal ceroid lipofuscinosis
    SHEN Wen-wen, ZHANG Li-ping,HAO Jie,et al
    2019, 34(1): 41-45.  DOI: 10.19538/j.ek2019010613
    Abstract ( )  

    Objective To investigate diagnosis of children’s neuronal ceroid lipofuscinosis(NCL),especially the significance of gene diagnosis. Methods The clinical data of 5 cases of suspected NCL in our hospital from January 2013 to January 2017 were retrospectively analyzed. There were 3 boys and 2 girls,2 of whom were sister and brother. The age of onset ranged from 3 years and 4 months to 8 years and 1 month, averaged 5 years and 9 months. The first visit to our hospital ranged from 3 years and 6 months to 14 years, with an average of 8 years and 1 month. DNA of peripheral blood was extracted from 4 children with abnormal imaging and their parents and brothers,and the related genes were detected. Results Four cases of children were diagnosed with NCL,and 1 case was diagnosed with hysteria;gene detection showed:case 1: TPP1 gene c.887-17A>G was a shearing variant,and c.646G>A was a missense mutation;case 2: TPP1 gene c.1015_1016 del was frameshift mutation,and c.640C>T was nonsense mutation;the nucleotide of case 3: CLN6 gene changed to c.158T>C(p.L53P) and c.889C>T(p.P297S). The parents of the 3 cases only carried one of the heterozygous variants,and the brother of case 3 had no mutation. Heterozygous mutation existed in case 4: CLN3 gene,c.1160_1169 delCAGCCTACGTinsGC,which was not detected in the mother,and there was the deletion of the paternal sample;there was loss of heterozygosity in the exon E3-E8 of the CLN3 gene,which was the true missing from mother. Five cases were followed up for 15-60 months and there was no death. Conclusion Suspected NCL patients should be checked head MRI,electroencephalogram and gene. The gene mutation leads to NCL,such as TPP1(c.887-17A>G,c.1015_1016 del),CLN3(c.1160_1169 delCAGCCTACGTinsGC),CLN6[(c.158T>C(p.L53P) and c.889C>T(p.P297S)],are reported for the first time. Genotype is very important for NCL classification and prognosis.

    Clinical analysis of children with cerebral palsy complicated by microcephaly in Chengdu
    MA Dan*,WANG Qiu,LUO Rong,et al
    2019, 34(1): 46-49.  DOI: 10.19538/j.ek2019010614
    Abstract ( )  

    Objective To characterize the clinical symptoms of all enrolled microcephalic children with cerebral palsy(CP);to provide evidence for rehabilitation management. Methods To summarize the results of a cross-sectional survey of a total of 422 children(0-18 years old) who were registered as cerebral palsy by Disabled Persons’ Federation of Chengdu from February to April in 2013. All children were grouped according to head circumference. We analyzed the correlation between head circumference with gross motor function classification system(GMFCS),intelligence and complications. Results There were statistically significant between the two different degrees of head circumference group and the classification of GMFCS and cognition respectively(P<0.001). Spearman correlation analysis showed that the number of comorbidities,GMFCS and degree of cognitive damage in children with cerebral palsy with microcephaly were negatively correlated with head circumference(P<0.001). Conclusion The degree of head circumference reduction in children with cerebral palsy complicated by microcephaly is negatively correlated with GMFCS,the number of comorbidities and the degree of cognitive impairment.

    Clinical features and gene analysis of 4 cases of Shwachman-Diamond syndrome in children
    ZHOU Jin,GUO Shu,WANG Guo-li,et al
    2019, 34(1): 50-52.  DOI: 10.19538/j.ek2019010615
    Abstract ( )  
    Primary intestinal lymphangiectasia in 5 infants: An analysis of the clinical features and the literature review
    YAN Kun-long,CHENG Wei-xia,LIAN Min,et al
    2019, 34(1): 53-55.  DOI: 10.19538/j.ek2019010616
    Abstract ( )  
    Clinical report of 2 cases of early-onset epileptic encephalopathies related to KCNQ2 gene mutation of potassium channel
    HU Chun-hui,SUN Dan,HU Jia-sheng,et al
    2019, 34(1): 56-58.  DOI: 10.19538/j.ek2019010617
    Abstract ( )  
    Congenital insensitivity to pain with anhidrosis caused by NTRK1 gene mutation:A report of one case and the literature review
    GE Hai-xia,JIN Zhong-qin,WU Qing-bin,et al
    2019, 34(1): 59-61.  DOI: 10.19538/j.ek2019010618
    Abstract ( )  
    Research progress in childhood joint attention
    LI Wen-qian,CHENG Qian
    2019, 34(1): 62-66.  DOI: 10.19538/j.ek2019010619
    Abstract ( )  
    Research progress in the treatment of tuberous sclerosis with rapamycin and its ramification
    ZHANG Shi-min,QIN Jiong
    2019, 34(1): 67-70.  DOI: 10.19538/j.ek2019010620
    Abstract ( )  
    Research progress in the role of nuclear factor kappa B in the pathogenesis of inflammatory bowel disease
    WANG Gui-na,MAO Zhi-qin
    2019, 34(1): 71-73.  DOI: 10.19538/j.ek2019010621
    Abstract ( )  
    Moyamoya disease with EEG re-build complicated by transient ischemic attack in children:A report of 2 cases
    YANG Bing-zhu,TIAN Mao-qiang,ZHANG Gui-ping,et al
    2019, 34(1): 74-75.  DOI: 10.19538/j.ek2019010622
    Abstract ( )  
    2p deletion syndrome:A report of one case and the literature review
    GUO Ying-ying,WANG Ju-li,CAO Hong-tao
    2019, 34(1): 76-78.  DOI: 10.19538/j.ek2019010623
    Abstract ( )  
    One case of epilepsy related to PCDH19 gene mutation
    SHI Kai-li,LI Rui-fang,ZHANG Lin-xia,et al
    2019, 34(1): 79-80.  DOI: 10.19538/j.ek2019010624
    Abstract ( )